OMIA 002149-9913 : Haplotype with homozygous deficiency HH6 in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SDE2||SDE2 telomere maintenance homolog (S. pombe)||Bos taurus||16||NC_037343.1 (29020714..29005211)||SDE2||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|990||Holstein||Abortion due to haplotype HH6||SDE2||start-lost||Naturally occurring variant||ARS-UCD1.2||16||g.29020700A>G||c.2T>C||p.(M1?)||ENSBTAT00000016992.6:c.2T>C ENSBTAP00000016992.5:p.Met1? "This A-to-G transition changes the initiator ATG (methionine) codon to ACG because the gene is transcribed on the reverse strand. . . . Initiation of translation at the closest in-frame Met codon would truncate SDE2 by 83 amino acids, including an 8-amino acid motif conserved among eukaryotes"||rs434666183||rs434666183||2018||29680649|
|2018||Fritz, S., Hoze, C., Rebours, E., Barbat, A., Bizard, M., Chamberlain, A., Escouflaire, C., Vander Jagt, C., Boussaha, M., Grohs, C., Allais-Bonnet, A., Philippe, M., Vallée, A., Amigues, Y., Hayes, B.J., Boichard, D., Capitan, A., Fritz, S., Hoze, C., Rebours, E., Barbat, A., Bizard, M., Chamberlain, A., Escouflaire, C., Vander Jagt, C., Boussaha, M., Grohs, C., Allais-Bonnet, A., Philippe, M., Vallée, A., Amigues, Y., Hayes, B.J., Boichard, D., Capitan, A. :|
|An initiator codon mutation in SDE2 causes recessive embryonic lethality in Holstein cattle. J Dairy Sci 101:6220-6231, 2018. Pubmed reference: 29680649. DOI: 10.3168/jds.2017-14119.|
- Created by Frank Nicholas on 20 Apr 2018
- Changed by Frank Nicholas on 20 Apr 2018